Quest Magazine

Cardiac Actin Can Substitute for Skeletal-Muscle Actin

A protein present in skeletal muscles during fetal development and in the heart after birth can apparently compensate for a similar protein that's missing in a small percentage of patients with the muscle disease known as nemaline myopathy.

MDA research grantee Nigel Laing at the University of Western Australia in Perth was part of a multinational team of scientists, who published their findings May 25, 2009, in the Journal of Cell Biology.

WNT7a Protein Boosts Muscle Repair

In experiments in mice, Michael Rudnicki, an MDA grantee at the Sprott Center for Stem Cell Research at Ottawa Hospital Research Institute (OHRI), and colleagues, found the WNT7a protein stimulates muscle repair by causing proliferation (an increase in number) of "satellite stem cells." They say the protein probably operates similarly in humans. The findings were published June 5, 2009, in the journal Cell Stem Cell.

Stem Cell Research Brings New Hope for Muscular Dystrophy Treatment

A discovery that strengthens the body’s ability to repair muscle tissue could lead to new treatments for people with muscular dystrophy and other degenerative muscle diseases.

Kids’ Respiratory Needs

The proceedings of a symposium titled "Pulmonary Management of Pediatric Patients with Neuromuscular Disorders" have been published as a supplement to the May 2009 issue of the journal Pediatrics.

The symposium was held Feb. 20, 2008, at Scottish Rite Hospital in Dallas, and was sponsored by MDA, as well as Respironics and Hill-Rom Services.

Topics, all of which pertain specifically to children with neuromuscular disorders, include

Holes in the Walls

Proteins that keep large molecules from moving freely across blood-vessel walls in the spinal cord appear to be deficient in people with ALS (amyotrophic lateral sclerosis), MDA-supported researchers say. They don't yet know, however, whether a lower-than-normal level of some of these so-called "tight junction" proteins, is helpful or harmful in the disease process.

Utrophin Gets In

MDA grantee James Ervasti and colleagues at the University of Minnesota-Twin Cities in Minneapolis have found that a protein known as utrophin, injected into mice lacking the dystrophin protein and showing a disease resembling Duchenne muscular dystrophy (DMD), conferred significant benefits.

The experiments Ervasti and colleagues describe online May 26, 2009, in PLoS Medicine, are the first to show benefit from the direct injection into DMD mice of utrophin protein, rather than utrophin genes or gene modifiers.

Holes in the Walls

Proteins that keep large molecules from moving freely across blood-vessel walls in the spinal cord appear to be deficient in people with ALS (amyotrophic lateral sclerosis), MDA-supported researchers say. They don't yet know, however, whether a lower-than-normal level of some of these so-called "tight junction" proteins, is helpful or harmful in the disease process.

Fighting the Fire

A protein called osteopontin has been implicated as a cause of some of the detrimental inflammation and scarring ("fibrosis") of muscle tissue that takes place in Duchenne muscular dystrophy (DMD). Eliminating osteopontin was beneficial to mice with a DMD-like disease, and the researchers concluded that reducing osteopontin should be investigated as a possible therapy for DMD.

FA Research: Idebenone Not Effective

On May 19, 2009, Santhera Pharmaceuticals reported that a phase 3 trial of its idebenone compound Catena showed the drug was not associated with a statistically significant benefit in 70 children between 8 and 17 years old with Friedreich's ataxia who took it for six months. (See the company's press release, Santhera's US Phase III IONIA Trial in Friedreich's Ataxia Misses Primary Endpoint.)

ALS Research: Survival Gene

A variant version of the gene for a protein known as KIFAP3 has been found to increase survival time in people with sporadic (nonfamilial) ALS (amyotrophic lateral sclerosis, or Lou Gehrig's disease) by an average of 14 months.

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